{"orpha":163634,"name":"Maffucci syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Enchondromatosis Spranger type II","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type"],"definition":"A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163634/","orphanet_url":"https://www.orpha.net/en/disease/detail/163634","names":{"fr":{"name":"Syndrome de Maffucci","synonyms":["Multiple Enchondromatosis, type Maffucci"],"definition":"Maladie rare caractérisée par de multiples enchondromes associés à de multiples hémangiomes (sombres, de forme irrégulière). Plus rarement, des lymphangiomes sont également associés."},"de":{"name":"Maffucci-Syndrom","definition":"Eine seltenes Syndrom, das durch multiple Enchondromatose in Verbindung mit multiplen (dunklen, unregelmäßig geformten) Hämangiomen gekennzeichnet ist. Seltener wird auch von Lymphangiomen berichtet."},"es":{"name":"Síndrome de Maffucci","definition":"Es un trastorno poco frecuente caracterizado por encondromatosis múltiple asociada al desarrollo de hemangiomas múltiples (oscuros, de forma irregular). También asocia linfangiomas con menor frecuencia."},"it":{"name":"Sindrome di Maffucci","definition":"La sindrome di Maffucci è una malattia scheletrica e cutanea molto rara di origine genetica. È caratterizzata da encondromi multipli, che esitano in deformità ossee, associati ad emangiomi multipli di colore scuro, di forma irregolare, oppure, più raramente, a linfangiomi."},"nl":{"name":"Syndroom van Maffucci","definition":"Een zeldzame aandoening, gekenmerkt door multipele enchondromatose geassocieerd met meervoudige (donkere, onregelmatig gevormde) hemangiomen. Lymfangioom wordt ook gerapporteerd, zij het minder vaak."},"pt":{"name":"Síndrome de Maffucci","definition":"Doença rara caracterizada por encondromatose múltipla associada a hemangiomas (escuros, de formato irregular) múltiplos. Menos comummente, linfangiomas podem também estar presentes."},"pl":{"name":"Zespół Maffuciego","synonyms":["Enchondromatosis Spranger type II","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type"]},"cs":{"name":"Maffucciho syndrom","synonyms":["Enchondromatosis Spranger type II","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type"]},"uk":{"name":"Синдром Маффуччі","synonyms":["Енхондроматоз Шпрангера типу II","Множинний енхондроматоз II типу","Множинний енхондроматоз, тип Маффуччі"],"definition":"A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported."},"zh":{"name":"Maffucci 综合征","definition":"Maffucci综合征是一种非常罕见的遗传性骨病和皮肤病，其特征是导致骨畸形的多发性内生软骨瘤，并伴有多发性深色形状不规则血管瘤或不常见的淋巴管瘤。"},"tr":{"name":"Maffucci sendromu"}},"xrefs":[{"source":"OMIM","code":"614569","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"548780091"},{"source":"MONDO","code":"0013808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":723261,"name":"Syndromic venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"IDH1","name":"isocitrate dehydrogenase (NADP(+)) 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22057234[PMID]_22057236[PMID]","hgnc":"5382","ensembl":"ENSG00000138413","omim":"147700","loci":["2q34"]},{"symbol":"IDH2","name":"isocitrate dehydrogenase (NADP(+)) 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22057234[PMID]_22057236[PMID]","hgnc":"5383","ensembl":"ENSG00000182054","omim":"147650","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007461","label":"Hemangiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006765","label":"Chondrosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100641","label":"Neoplasm of the adrenal cortex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100733","label":"Neoplasm of the parathyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Occasional (29-5%)","criteria":null}]}}